Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP686796.RAhFFgiveD9YuJz3CllgdU5douHaeP6cKm-0P-vMJ7Tsc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP686796.RAhFFgiveD9YuJz3CllgdU5douHaeP6cKm-0P-vMJ7Tsc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP686796.RAhFFgiveD9YuJz3CllgdU5douHaeP6cKm-0P-vMJ7Tsc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP686796.RAhFFgiveD9YuJz3CllgdU5douHaeP6cKm-0P-vMJ7Tsc130_provenance.
- NP686796.RAhFFgiveD9YuJz3CllgdU5douHaeP6cKm-0P-vMJ7Tsc130_assertion description "[We report an infant presenting with afebrile seizures secondary to hyperinsulinemic hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP686796.RAhFFgiveD9YuJz3CllgdU5douHaeP6cKm-0P-vMJ7Tsc130_provenance.
- NP686796.RAhFFgiveD9YuJz3CllgdU5douHaeP6cKm-0P-vMJ7Tsc130_assertion evidence source_evidence_literature NP686796.RAhFFgiveD9YuJz3CllgdU5douHaeP6cKm-0P-vMJ7Tsc130_provenance.
- NP686796.RAhFFgiveD9YuJz3CllgdU5douHaeP6cKm-0P-vMJ7Tsc130_assertion SIO_000772 21932603 NP686796.RAhFFgiveD9YuJz3CllgdU5douHaeP6cKm-0P-vMJ7Tsc130_provenance.
- NP686796.RAhFFgiveD9YuJz3CllgdU5douHaeP6cKm-0P-vMJ7Tsc130_assertion wasDerivedFrom befree-20140225 NP686796.RAhFFgiveD9YuJz3CllgdU5douHaeP6cKm-0P-vMJ7Tsc130_provenance.
- NP686796.RAhFFgiveD9YuJz3CllgdU5douHaeP6cKm-0P-vMJ7Tsc130_assertion wasGeneratedBy ECO_0000203 NP686796.RAhFFgiveD9YuJz3CllgdU5douHaeP6cKm-0P-vMJ7Tsc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP686796.RAhFFgiveD9YuJz3CllgdU5douHaeP6cKm-0P-vMJ7Tsc130_provenance.